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Egyptian Journal of Hospital Medicine [The]. 2014; 55 (April): 142-145
Dans Anglais | IMEMR | ID: emr-165985

Résumé

Hallermann-Streiff syndrome [HSS] is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial [craniofacial] region; sparse hair [hypotrichosis]; eye abnormalities; dental defects; degenerative skin changes [atrophy], particularly in the scalp and nasal regions; and proportionate short stature. Here we describe a case with HSS


Sujets)
Humains , Mâle , Maladies néonatales/génétique , Cataracte/génétique , Microphtalmie/génétique , Nystagmus congénital , Strabisme/génétique
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